Loss-of-function variants in ABCA7 confer risk of Alzheimer's disease


We conducted a search for rare, functional variants altering susceptibility to Alzheimer's disease that exploited knowledge of common variants associated with the same disease. We found that loss-of-function variants in ABCA7 confer risk of Alzheimer's disease in Icelanders (odds ratio (OR) = 2.12, P = 2.2 × 10−13) and discovered that the association replicated in study groups from Europe and the United States (combined OR = 2.03, P = 6.8 × 10−15).

DOI: 10.1038/ng.3246
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@article{Steinberg2015LossoffunctionVI, title={Loss-of-function variants in ABCA7 confer risk of Alzheimer's disease}, author={Stacy Steinberg and Hreinn Stefansson and Thorl{\'a}kur J{\'o}nsson and Hrefna S J{\'o}hannsd{\'o}ttir and Andr{\'e}s Ingason and Hannes Helgason and Patrick Sulem and Olafur Th Magnusson and Sigurjon Axel Gudjonsson and Unnur Unnsteinsdottir and Augustine Kong and Seppo Helisalmi and Hilkka Soininen and James J. Lah and Dag Aarsland and Tormod Fladby and Ingun Dina Ulstein and Srdjan Djurovic and Sigrid Botne Sando and Linda White and Gun-Peggy Knudsen and Lars T. Westlye and Geir Selb{\ae}k and Ina Giegling and Harald Hampel and Mikko Hiltunen and Allan I. Levey and Ole A. Andreassen and Dan Rujescu and Palmi V. Jonsson and Sigurbjorn Bjornsson and J{\'o}n Snaedal and K{\'a}ri Stef{\'a}nsson}, journal={Nature Genetics}, year={2015}, volume={47}, pages={445-447} }